Canonical Allele Identifier: CA1752434427
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951096C= , CM000669.2:g.150951096C= GRCh38
NC_000007.13:g.150648184C= , CM000669.1:g.150648184C= GRCh37
NC_000007.12:g.150279117C= NCBI36
NG_008916.1:g.31831G= , LRG_288:g.31831G=

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1268G=
ENST00000683359.1:n.94G=
ENST00000684241.1:n.2803G=
ENST00000262186.10:c.1970G= MANE Select ENSP00000262186.5:p.Gly657=
ENST00000330883.9:c.950G= ENSP00000328531.4:p.Gly317=
ENST00000262186.9:c.1970G= ENSP00000262186.5:p.Gly657=
ENST00000330883.8:c.950G= ENSP00000328531.4:p.Gly317=
ENST00000430723.4:c.1622G= ENSP00000387657.4:p.Gly541=
ENST00000461280.1:n.1257G=
ENST00000473610.5:n.1602G=
ENST00000532957.5:n.2193G=
NM_000238.3:c.1970G= , LRG_288t1:c.1970G= NP_000229.1:p.Gly657=
NM_001204798.1:c.950G= NP_001191727.1:p.Gly317=
NM_172056.2:c.1970G= , LRG_288t2:c.1970G= NP_742053.1:p.Gly657=
NM_172057.2:c.950G= , LRG_288t3:c.950G= NP_742054.1:p.Gly317=
XM_011516185.1:c.1670G= XP_011514487.1:p.Gly557=
XM_011516186.1:c.1970G= XP_011514488.1:p.Gly657=
XM_011516185.2:c.1670G= XP_011514487.1:p.Gly557=
XM_011516186.3:c.1970G= XP_011514488.1:p.Gly657=
XM_017012195.1:c.1820G= XP_016867684.1:p.Gly607=
XM_017012196.1:c.1793G= XP_016867685.1:p.Gly598=
NM_000238.4:c.1970G= MANE Select NP_000229.1:p.Gly657=
NM_001204798.2:c.950G= NP_001191727.1:p.Gly317=
NM_172057.3:c.950G= NP_742054.1:p.Gly317=